MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia. We identified an X-linked recessive form of OI caused by defects in MBTPS2, which encodes site-2 metalloprotease (S2P). MBTPS2 missense mutations in two independent kindreds with moderate/severe OI cause substitutions at highly conse...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Nat Commun
Main Authors: Lindert, Uschi, Cabral, Wayne A., Ausavarat, Surasawadee, Tongkobpetch, Siraprapa, Ludin, Katja, Barnes, Aileen M., Yeetong, Patra, Weis, Maryann, Krabichler, Birgit, Srichomthong, Chalurmpon, Makareeva, Elena N., Janecke, Andreas R., Leikin, Sergey, Röthlisberger, Benno, Rohrbach, Marianne, Kennerknecht, Ingo, Eyre, David R., Suphapeetiporn, Kanya, Giunta, Cecilia, Marini, Joan C., Shotelersuk, Vorasuk
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2016
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4935805/
https://ncbi.nlm.nih.gov/pubmed/27380894
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms11920
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker